How rare is rare enough to be concerning for a variant? A new paper by the ExAC team suggests some thresholds for the “maximum credible population AF” for different conditions. Spoiler: much less than 5% http://biorxiv.org/content/early/2016/09/02/073114

The Middle East is an interesting population from a genetic point of view because of high levels of consanguinity (100 times higher than the US) and large families. A study looking at 1111 exomes, found e.g. “rare homozygous putative loss-of-function variants in 301 genes, of which a substantial proportion were novel,”: http://www.nature.com/ng/journal/v48/n9/full/ng.3652.html

A delightful paper that dwells on some of the inconsistent uses of language in genomics. e.g. “It is the phenotype or trait that exhibits a given inheritance pattern, not the pathogenic variant. Thus, it is incorrect to say that a variant “is” autosomal recessive (or dominant, etc.) but correct to say it is associated with an autosomal recessive (or dominant) pattern of inheritance.” And calling it Next Generation Sequencing is so yesteryear, now we’re calling it “Massively Parallel Sequencing”. http://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016139a.html

A study of how direct to consumer companies handled data privacy and sharing showed most came up short. The study is also of interest for listing the breadth of concerns that such a company needs to address: https://www.ncbi.nlm.nih.gov/pubmed/27657678

You’ve heard of GWAS, you’ve probably heard of PheWAS, but what about EWAS? Epigenome Wide Association Studies are starting to be a thing, such as this one on Schizophrenia, which discovered hundreds of sites differentially methylated in those with the condition, some overlapping with sites previously identified via GWAS: http://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-1041-x

And in another win for omics, a Metabolomic study has shown clear differences in those suffering from Chronic Fatugue Syndrome – their metabolomes resemble those who have infections. The signal is clear enough to suggest a much needed diagnostic method: http://www.pnas.org/content/early/2016/08/24/1607571113.full